Canonical Allele Identifier: PA2827009173
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486606
ClinVar RCV Id: RCV000561137 RCV000685152 RCV004001147
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser1231Leu
CA050248
NM_001318829.2:c.3692C>T